Diphallia

A rare, non-syndromic, urogenital tract malformation characterized by complete or partial penile duplication, ranging from only glans duplication to the presence of two penis shafts with either one (i.e. bifid phallus) or two (i.e. true diphallia) corpora cavernosum in each. Additional anomalies, such as urethra duplication, an abnormal voiding pattern, hypo- or epispadias, bifid/ectopic scrotum, bladder exstrophy or duplication, are frequently associated, but it may also present as an isolated anomaly. In severe cases, pubic symphysis diastasis, imperforate or duplicated anus, colon/ rectosigmoidal duplication, inguinal hernia and vertebral anomalies may be observed.

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Narrow down the case reports

Total: 26 (papers)

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Matched Phenotype Gene Mutation MeSH

Rank (Similarity)	PMID (PMCID)
1 (17.5%)	19193418	Scrotal primary lipoma with unusual clinical appearance in newborn. Kim SO, Im CM, Joo JS, Oh KJ, Jung SI, Park K, Choi C, Kang TW, Kwon D, Ryu SB. Urology. 2009;73(5):1024-5. [ Show abstract ] [ Hide abstract ]
		Lipoma


		Follow-Up Studies Genital Neoplasms, Male Health Risk Assessment Homo sapiens Immunohistochemistry Infant, Newborn Lipoma Male Rare Diseases Scrotum Ultrasonography, Doppler, Color Urogenital Surgical Procedures
2 (4.0%)	31135983	Diphallia, Double Bladder, and Two Hemiscrotums: A Case Report. Dunn D, Fine RG. AORN J. 2019;109(6):728-740. [ Show abstract ] [ Hide abstract ]
		Bladder duplication


		Child, Preschool Homo sapiens Male Urethra Urologic Surgical Procedures, Male
2 (4.0%)	30009078 (6020512)	A Rare Case of Human Diphallia Associated with Hypospadias. Frolov A, Tan Y, Rana MW, Martin JR 3rd. Case Rep Urol. 2018;2018:8293036. [ Show abstract ] [ Hide abstract ]
		Hypospadias



2 (4.0%)	29588261 (6060966)	Complete Penile Duplication with Structurally Normal Penises: A Case Report Karagozlu Akgul A, Ucar M, Celik F, Krstoglu , Klc N. Balkan Med J. 2018;35(4):340-343. [ Show abstract ] [ Hide abstract ]
		Anal atresia


		Child, Preschool Homo sapiens Male Urethra Urogenital Abnormalities Urologic Surgical Procedures
2 (4.0%)	28792795	Diphallia in a Mixed-Breed Puppy: Case Report. Laube R, Cook A, Winkler K. J Am Anim Hosp Assoc. 2017;53(5):281-284. [ Show abstract ] [ Hide abstract ]
		Paraphimosis


		Animals Canis familiaris Contrast Media Dog Diseases Females Male Urogenital Abnormalities
2 (4.0%)	26610674	A Case of Bifid Phallus and Bladder Neck Incompetence: Is This a Variant of Epispadias or Hypospadias? Matsumoto F, Onitake Y, Matsui F, Shimada K. Urology. 2016;88:186-8. [ Show abstract ] [ Hide abstract ]
		Urinary incontinence


		Epispadias Homo sapiens Hypospadias Infant Male Urinary Bladder Urinary Bladder Diseases
2 (4.0%)	26114007 (4465739)	Unusual Variant of Coronal Bladder Duplication Associated with Glans Diphallia: A Case Report and Review of the Literature. Khorramirouz R, Bagheri A, Kajbafzadeh AM. Case Rep Urol. 2015;2015:909102. [ Show abstract ] [ Hide abstract ]
		Bladder duplication



2 (4.0%)	25004320	Prenatal diagnosis of true diphallia and associated anomalies. Tu YA, Su YN, Yang PK, Shih JC. Obstet Gynecol. 2014;124(2 Pt 2 Suppl 1):416-8. [ Show abstract ] [ Hide abstract ]
		Bifid scrotum


		Adult Females Fetal Death Homo sapiens Infant, Newborn Male Pregnancy Ultrasonography, Prenatal Urogenital Abnormalities
2 (4.0%)	24383036 (3870645)	Diphallia with associated anomalies: a case report and literature review. Tirtayasa PM, Prasetyo RB, Rodjani A. Case Rep Urol. 2013;2013:192960. [ Show abstract ] [ Hide abstract ]
		Bifid scrotum



2 (4.0%)	23413289	A rare case of isolated complete diphallia and review of the literature. Kundal VK, Gajdhar M, Shukla AK, Kundal R. BMJ Case Rep. 2013;2013:. [ Show abstract ] [ Hide abstract ]
		Hypospadias


		Child, Preschool Homo sapiens Male Urethra

Phenotype(s) retrieved from Orphanet

Total: 29

HPO ID	Term	Frequency
HP:0000048	Bifid scrotum	Very frequent (99-80%)
HP:0000119	Abnormality of the genitourinary system	Very frequent (99-80%)
HP:0100599	Bifid penis	Very frequent (99-80%)
HP:0000047	Hypospadias	Frequent (79-30%)
HP:0002023	Anal atresia	Frequent (79-30%)
HP:0008706	Distal urethral duplication	Frequent (79-30%)
HP:0030275	Ectopic scrotum	Frequent (79-30%)
HP:0100600	Penoscrotal transposition	Frequent (79-30%)
HP:0000023	Inguinal hernia	Occasional (29-5%)
HP:0000028	Cryptorchidism	Occasional (29-5%)
HP:0000039	Epispadias	Occasional (29-5%)
HP:0000073	Ureteral duplication	Occasional (29-5%)
HP:0000075	Renal duplication	Occasional (29-5%)
HP:0000085	Horseshoe kidney	Occasional (29-5%)
HP:0001627	Abnormal heart morphology	Occasional (29-5%)
HP:0001631	Atrial septal defect	Occasional (29-5%)
HP:0002836	Bladder exstrophy	Occasional (29-5%)
HP:0003172	Abnormality of the pubic bone	Occasional (29-5%)
HP:0004712	Renal malrotation	Occasional (29-5%)
HP:0008669	Abnormal spermatogenesis	Occasional (29-5%)
HP:0010475	Cloacal exstrophy	Occasional (29-5%)
HP:0011024	Abnormality of the gastrointestinal tract	Occasional (29-5%)
HP:0011140	Gastrointestinal duplication	Occasional (29-5%)
HP:0002650	Scoliosis	Very rare (4-1%)
HP:0002937	Hemivertebrae	Very rare (4-1%)
HP:0003316	Butterfly vertebrae	Very rare (4-1%)
HP:0004792	Rectoperineal fistula	Very rare (4-1%)
HP:0005223	Duplicated colon	Very rare (4-1%)
HP:0009777	Absent thumb	Very rare (4-1%)

Phenotype(s) retrieved from case reports

Total: 10

HPO ID	Term	# of case reports
HP:0000039	Epispadias	2
HP:0000047	Hypospadias	2
HP:0000048	Bifid scrotum	2
HP:0025489	Bladder duplication	2
HP:0002021	Pyloric stenosis	1
HP:0010480	Urethral fistula	1
HP:0030274	Accessory scrotum	1
HP:0030275	Ectopic scrotum	1
HP:0100548	Exstrophy	1
HP:0100588	Paraphimosis	1

Causative gene(s) retrieved from Orphanet

Total: 0

Gene Symbol	Gene Name	Entrez Gene ID